Incidental Mutation 'R2043:Pdk4'
ID 225175
Institutional Source Beutler Lab
Gene Symbol Pdk4
Ensembl Gene ENSMUSG00000019577
Gene Name pyruvate dehydrogenase kinase, isoenzyme 4
Synonyms
MMRRC Submission 040050-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2043 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 5483351-5496278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5485502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 396 (C396S)
Ref Sequence ENSEMBL: ENSMUSP00000019721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019721]
AlphaFold O70571
Predicted Effect probably benign
Transcript: ENSMUST00000019721
AA Change: C396S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000019721
Gene: ENSMUSG00000019577
AA Change: C396S

DomainStartEndE-ValueType
low complexity region 10 19 N/A INTRINSIC
Pfam:BCDHK_Adom3 34 195 1.2e-51 PFAM
HATPase_c 243 368 2.05e-10 SMART
Meta Mutation Damage Score 0.0823 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 96% (47/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered glucose homoeostasis during starvation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A G 8: 25,486,669 (GRCm39) probably null Het
Adnp2 A C 18: 80,171,541 (GRCm39) M956R probably damaging Het
Aldh1l1 T A 6: 90,534,314 (GRCm39) D36E probably benign Het
Ankmy1 T C 1: 92,804,249 (GRCm39) probably benign Het
Apaf1 T C 10: 90,872,890 (GRCm39) D718G probably damaging Het
Ascc3 C T 10: 50,576,616 (GRCm39) P857L probably damaging Het
Atp8b1 T C 18: 64,738,271 (GRCm39) K60R possibly damaging Het
Bub1 A T 2: 127,646,140 (GRCm39) C947S probably damaging Het
Cacna1c C T 6: 118,573,049 (GRCm39) G2017D probably benign Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc110 T C 8: 46,395,864 (GRCm39) M585T probably benign Het
Cep85l A T 10: 53,234,224 (GRCm39) N51K possibly damaging Het
Cftr T C 6: 18,320,934 (GRCm39) F1415L probably benign Het
Cln5 T C 14: 103,313,380 (GRCm39) S211P probably damaging Het
Dcaf5 A T 12: 80,386,991 (GRCm39) D378E probably benign Het
Dhx57 A G 17: 80,560,509 (GRCm39) probably benign Het
Dsn1 G A 2: 156,847,273 (GRCm39) S55L possibly damaging Het
Eif5b T C 1: 38,080,900 (GRCm39) F747S probably damaging Het
Entrep3 A G 3: 89,092,874 (GRCm39) Y251C probably damaging Het
Fbxo25 A G 8: 13,971,905 (GRCm39) I86V probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Glcci1 T A 6: 8,582,590 (GRCm39) I130K probably damaging Het
Gm5424 A G 10: 61,906,990 (GRCm39) noncoding transcript Het
Gsdma G A 11: 98,557,046 (GRCm39) V54M possibly damaging Het
H3c3 A G 13: 23,929,278 (GRCm39) F68S probably damaging Het
Heatr3 T A 8: 88,874,322 (GRCm39) probably benign Het
Hspa13 A G 16: 75,555,156 (GRCm39) L310S probably benign Het
Il6st A C 13: 112,616,753 (GRCm39) Q100P probably benign Het
Ly6g6e G A 17: 35,296,840 (GRCm39) R27Q possibly damaging Het
Mis18bp1 A T 12: 65,196,192 (GRCm39) I524K probably damaging Het
Myo18a T C 11: 77,714,189 (GRCm39) I761T probably damaging Het
Mypop T C 7: 18,734,944 (GRCm39) probably benign Het
Or51ag1 A G 7: 103,156,150 (GRCm39) M1T probably null Het
Pcdh20 G A 14: 88,704,591 (GRCm39) T903I probably benign Het
Piwil2 A G 14: 70,628,919 (GRCm39) V699A probably benign Het
Plekha5 T C 6: 140,498,530 (GRCm39) probably benign Het
Ralgapa1 T A 12: 55,723,811 (GRCm39) I1572L probably damaging Het
Rasgrf2 T A 13: 92,167,351 (GRCm39) M241L possibly damaging Het
Ryr1 C T 7: 28,759,056 (GRCm39) R3374H probably damaging Het
Slc24a2 A T 4: 86,914,882 (GRCm39) M519K probably damaging Het
Smg9 T A 7: 24,105,001 (GRCm39) I67N possibly damaging Het
Spart G A 3: 55,034,969 (GRCm39) A452T probably damaging Het
Ush2a T A 1: 188,648,453 (GRCm39) F4686Y probably benign Het
Zfp146 T C 7: 29,861,664 (GRCm39) K126R possibly damaging Het
Zfp386 T A 12: 116,022,781 (GRCm39) D131E probably benign Het
Zfp423 T C 8: 88,509,246 (GRCm39) D366G probably damaging Het
Zfp729a T C 13: 67,769,291 (GRCm39) K313E probably damaging Het
Zfp955a G A 17: 33,461,527 (GRCm39) H202Y possibly damaging Het
Other mutations in Pdk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Pdk4 APN 6 5,491,869 (GRCm39) missense probably benign 0.16
IGL01524:Pdk4 APN 6 5,491,979 (GRCm39) missense probably damaging 1.00
IGL01814:Pdk4 APN 6 5,491,828 (GRCm39) critical splice donor site probably null
IGL02136:Pdk4 APN 6 5,486,715 (GRCm39) missense probably damaging 1.00
IGL02630:Pdk4 APN 6 5,491,671 (GRCm39) missense possibly damaging 0.63
IGL02689:Pdk4 APN 6 5,487,408 (GRCm39) missense probably benign 0.44
R0277:Pdk4 UTSW 6 5,491,620 (GRCm39) missense probably damaging 1.00
R0335:Pdk4 UTSW 6 5,491,138 (GRCm39) missense probably benign 0.00
R0990:Pdk4 UTSW 6 5,485,577 (GRCm39) missense probably benign 0.39
R1792:Pdk4 UTSW 6 5,489,166 (GRCm39) missense probably damaging 1.00
R2091:Pdk4 UTSW 6 5,494,857 (GRCm39) intron probably benign
R4074:Pdk4 UTSW 6 5,491,865 (GRCm39) missense probably benign 0.13
R4916:Pdk4 UTSW 6 5,489,157 (GRCm39) missense possibly damaging 0.79
R5414:Pdk4 UTSW 6 5,485,499 (GRCm39) missense probably benign
R5867:Pdk4 UTSW 6 5,487,452 (GRCm39) missense probably benign
R6772:Pdk4 UTSW 6 5,487,141 (GRCm39) missense probably benign
R7146:Pdk4 UTSW 6 5,491,068 (GRCm39) critical splice donor site probably null
R7193:Pdk4 UTSW 6 5,487,089 (GRCm39) missense probably benign
R7774:Pdk4 UTSW 6 5,492,757 (GRCm39) missense possibly damaging 0.50
R7873:Pdk4 UTSW 6 5,487,086 (GRCm39) missense probably benign 0.00
R7995:Pdk4 UTSW 6 5,487,093 (GRCm39) missense probably benign 0.42
R8782:Pdk4 UTSW 6 5,494,962 (GRCm39) missense possibly damaging 0.95
R9483:Pdk4 UTSW 6 5,486,716 (GRCm39) missense probably benign 0.00
R9501:Pdk4 UTSW 6 5,491,084 (GRCm39) missense probably damaging 0.99
R9596:Pdk4 UTSW 6 5,491,842 (GRCm39) missense probably benign
Z1176:Pdk4 UTSW 6 5,487,170 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGTCAAGGTTTGTACTCGTG -3'
(R):5'- AGAACACCCTGGGTTTGGTAC -3'

Sequencing Primer
(F):5'- CAAGGTTTGTACTCGTGTTTGTG -3'
(R):5'- AACACCCTGGGTTTGGTACATTTTTC -3'
Posted On 2014-08-25